{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:42:31Z","timestamp":1790170951232,"version":"4.1.0"},"reference-count":58,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurologic Clinics"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.ncl.2020.03.007","type":"journal-article","created":{"date-parts":[[2020,6,11]],"date-time":"2020-06-11T22:38:55Z","timestamp":1591915135000},"page":"637-659","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Distal Myopathies"],"prefix":"10.1016","volume":"38","author":[{"given":"Kevin J.","family":"Felice","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ncl.2020.03.007_bib1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.nmd.2011.10.003","article-title":"Distal myopathies \u2013 new genetic entities expand diagnostic challenge","volume":"22","author":"Udd","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.03.007_bib2","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/s11910-013-0434-4","article-title":"Distal myopathies","volume":"14","author":"Udd","year":"2014","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.ncl.2020.03.007_bib3","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/1097-4598(200103)24:3<352::AID-MUS1005>3.0.CO;2-M","article-title":"Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion","volume":"24","author":"Felice","year":"2001","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib4","first-page":"34","article-title":"Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia","volume":"33","author":"Kazakov","year":"2014","journal-title":"Acta Myol"},{"key":"10.1016\/j.ncl.2020.03.007_bib5","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/bmj.2.2167.89","article-title":"A\u00a0lecture on myopathy and a distal form: delivered at the National Hospital for the Paralyzed and Epileptic","volume":"2","author":"Gowers","year":"1902","journal-title":"Br Med J"},{"key":"10.1016\/j.ncl.2020.03.007_bib6","first-page":"1","article-title":"Myopathia distalis tarda hereditaria: 249 examined cases in 72 pedigrees","volume":"265","author":"Welander","year":"1951","journal-title":"Acta Med Scand Suppl"},{"key":"10.1016\/j.ncl.2020.03.007_bib7","first-page":"422","article-title":"Autosomal dominant distal myopathy: linkage to chromosome 14","volume":"56","author":"Laing","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib8","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1086\/424760","article-title":"Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)","volume":"75","author":"Meredith","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib10","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/mus.26332","article-title":"The unfolding spectrum of inherited distal myopathies","volume":"59","author":"Milone","year":"2019","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib11","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1111\/ene.12984","article-title":"Muscle imaging in inherited and acquired muscle diseases","volume":"23","author":"ten Dam","year":"2016","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib12","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.ncl.2014.04.004","article-title":"Distal myopathies","volume":"32","author":"Dimachkie","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1016\/j.ncl.2020.03.007_bib13","author":"Aoki"},{"key":"10.1016\/j.ncl.2020.03.007_bib14","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/mus.25367","article-title":"Progress and challenges in diagnosis of dysferlinopathy","volume":"54","author":"Fanin","year":"2016","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib15","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/1682","article-title":"Dysferlin, a novel skeletal muscle gene is mutated in Miyoshi myopathy and limb girdle muscular dystrophy","volume":"20","author":"Liu","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib17","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1001\/archneur.64.8.1176","article-title":"Phenotypic study in 40 patients with dysferlin gene mutations","volume":"64","author":"Nguyen","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib18","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0","article-title":"Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype","volume":"49","author":"Illa","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib19","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/2044-5040-1-10","article-title":"Muscle membrane repair and inflammatory attack in dysferlinopathy","volume":"1","author":"Han","year":"2019","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.ncl.2020.03.007_bib20","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy","volume":"107","author":"Richard","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.ncl.2020.03.007_bib21","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.nmd.2012.06.053","article-title":"MYH7 gene mutation related myopathies of skeletal and cardiac muscle","volume":"22","author":"Dastgir","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.03.007_bib22","author":"Lamont"},{"key":"10.1016\/j.ncl.2020.03.007_bib23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00401-012-1024-2","article-title":"Myosinopathies: pathology and mechanisms","volume":"125","author":"Tajsharghi","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.ncl.2020.03.007_bib24","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.3390\/ijms19072020","article-title":"The molecular mechanisms of mutations in actin and myosin that cause hereditary myopathy","volume":"19","author":"Marston","year":"2018","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.ncl.2020.03.007_bib25","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng718","article-title":"The UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy","volume":"29","author":"Eisenberg","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib26","author":"O'Ferrall"},{"key":"10.1016\/j.ncl.2020.03.007_bib27","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1212\/01.WNL.0000061617.71839.42","article-title":"Hereditary inclusion body\u00a0myopathy: the Middle Eastern genetic cluster","volume":"60","author":"Argov","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.007_bib28","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.nmd.2010.11.002","article-title":"Novel GNE mutations in two phenotypically distinct HIBM2 patients","volume":"21","author":"Weihl","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.03.007_bib29","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1007\/s13311-018-0671-y","article-title":"GNE myopathy: etiology, diagnosis, and therapeutic challenges","volume":"15","author":"Carillo","year":"2018","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.ncl.2020.03.007_bib30","doi-asserted-by":"crossref","first-page":"e2109","DOI":"10.1212\/WNL.0000000000006932","article-title":"A\u00a0phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy","volume":"92","author":"Lochm\u00fcller","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.007_bib31","first-page":"1","article-title":"Myofibrillar myopathies: new perspectives from animal models to potential therapeutic approaches","volume":"4","author":"Batonnet-Pichon","year":"2017","journal-title":"J\u00a0Neuromuscul Dis"},{"key":"10.1016\/j.ncl.2020.03.007_bib32","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/WCO.0000000000000357","article-title":"New aspects of myofibrillar myopathies","volume":"29","author":"Kley","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib33","author":"Selcen"},{"key":"10.1016\/j.ncl.2020.03.007_bib34","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1399-0004.2010.01512.x","article-title":"Desmin-related myopathy","volume":"80","author":"van Spaendonck","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib35","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/1300","article-title":"Missense mutations in desmin associated myopathy with familial cardiac and skeletal myopathy","volume":"19","author":"Goldfarb","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib36","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/978-0-387-84847-1_11","article-title":"Intermediate filament diseases: desminopathy","volume":"642","author":"Goldfarb","year":"2008","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ncl.2020.03.007_bib37","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1172\/JCI38027","article-title":"Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease","volume":"119","author":"Goldfarb","year":"2009","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.ncl.2020.03.007_bib38","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","article-title":"Approach to the diagnosis of congenital myopathies","volume":"24","author":"North","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.03.007_bib39","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.spen.2019.01.005","article-title":"Update on the genetics of congenital myopathies","volume":"29","author":"Pelin","year":"2019","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib40","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.spen.2019.01.007","article-title":"Myopathology of congenital myopathies: bridging the old and the new","volume":"29","author":"Phadke","year":"2019","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib41","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/CND.0000000000000141","article-title":"Clinical, electrophysiology, and pathology features of dynamin centronuclear myopathy: a case report and review of the literature","volume":"18","author":"Verma","year":"2016","journal-title":"J\u00a0Clin Neuromuscul Dis"},{"key":"10.1016\/j.ncl.2020.03.007_bib42","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ng1657","article-title":"Mutations in dynamin 2 cause dominant centronuclear myopathy","volume":"37","author":"Bitoun","year":"2005","journal-title":"Nat Genet"},{"issue":"4580","key":"10.1016\/j.ncl.2020.03.007_bib43","first-page":"1","article-title":"Dynamin-2 mutations linked to centronuclear myopathy impair actin-dependent trafficking in muscle cells","volume":"7","author":"Gonzalez-Jamett","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.ncl.2020.03.007_bib44","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/(SICI)1097-4598(199612)19:12<1608::AID-MUS12>3.0.CO;2-N","article-title":"Distal weakness in dystrophin-deficient muscular dystrophy","volume":"19","author":"Felice","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib45","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1136\/jnnp.2003.025072","article-title":"Autosomal recessive oculopharyngeal myopathy: a distinct phenotypical, histological, and genetic entity","volume":"75","author":"van der Sluijs","year":"2004","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.ncl.2020.03.007_bib46","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1212\/WNL.44.3_Part_1.442","article-title":"Facioscapulohumeral muscular dystrophy (FSHMD): design of natural history study and results of baseline testing","volume":"44","author":"Tawil","year":"1994","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.007_bib47","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/ana.410050203","article-title":"Emery-Dreifuss muscular dystrophy","volume":"5","author":"Rowland","year":"1979","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib48","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1002\/ana.410380504","article-title":"Inclusion body myositis and myopathies","volume":"38","author":"Griggs","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib49","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jnnp.2009.190751","article-title":"Distal muscle involvement in granulomatous myositis can mimic inclusion body myositis","volume":"82","author":"Larue","year":"2011","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.ncl.2020.03.007_bib50","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1002\/ana.410050504","article-title":"Debrancher deficiency: neuromuscular disorder in 5 adults","volume":"5","author":"DiMauro","year":"1979","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib51","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/mus.880160614","article-title":"Adult acid maltase deficiency","volume":"16","author":"Barohn","year":"1993","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib52","first-page":"1916","article-title":"Facioscapulohumeral humeral muscular dystrophy","volume":"22","author":"Statland","year":"2016","journal-title":"Continnum (Minneap Minn)"},{"key":"10.1016\/j.ncl.2020.03.007_bib53","doi-asserted-by":"crossref","first-page":"e2273","DOI":"10.1212\/WNL.0000000000007456","article-title":"FSHD1 and FSHD2 form a disease continuum","volume":"92","author":"Sacconi","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.007_bib54","first-page":"428","article-title":"Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35","volume":"51","author":"Mathews","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ncl.2020.03.007_bib55","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/mus.20344","article-title":"Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family","volume":"32","author":"Felice","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib56","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1212\/WNL.54.10.1927","article-title":"FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy","volume":"54","author":"Felice","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.03.007_bib57","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1001\/archneur.60.10.1421","article-title":"Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion","volume":"60","author":"Krasnianski","year":"2003","journal-title":"Arch Neurol"},{"key":"10.1016\/j.ncl.2020.03.007_bib58","first-page":"25","article-title":"Facio-scapulo-humeral dystrophy with early contractures and rigid spine","volume":"38","author":"Papadopoulos","year":"2019","journal-title":"Acta Myol"},{"key":"10.1016\/j.ncl.2020.03.007_bib59","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/mus.21722","article-title":"Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome","volume":"42","author":"Kottlors","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.03.007_bib60","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1002\/mus.25725","article-title":"Developing multidisciplinary clinics for neuromuscular care and research","volume":"56","author":"Paganoni","year":"2017","journal-title":"Muscle Nerve"}],"container-title":["Neurologic Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300281?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300281?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:17:56Z","timestamp":1760005076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0733861920300281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":58,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S0733861920300281"],"URL":"https:\/\/doi.org\/10.1016\/j.ncl.2020.03.007","relation":{},"ISSN":["0733-8619"],"issn-type":[{"value":"0733-8619","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distal Myopathies","name":"articletitle","label":"Article Title"},{"value":"Neurologic Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ncl.2020.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}